Canonical Allele Identifier: CA2695221089

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320908dup , CM000677.2:g.89320908dup	GRCh38
NC_000015.9:g.89864139dup , CM000677.1:g.89864139dup	GRCh37
NC_000015.8:g.87665143dup	NCBI36
NG_008218.1:g.18891dup
NG_008218.2:g.18891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2842dup	ENSP00000516154.1:p.Ile948AsnfsTer16
ENST00000268124.11:c.2842dup MANE Select	ENSP00000268124.5:p.Ile948AsnfsTer16
ENST00000530292.3:c.2443dup	ENSP00000432885.2:p.Ile815AsnfsTer16
ENST00000635986.2:c.2842dup	ENSP00000490653.2:p.Ile948AsnfsTer16
ENST00000636774.1:c.*1409dup	ENSP00000489799.1:n.*1409dup
ENST00000637238.1:c.1651dup	ENSP00000490756.1:n.1651dup
ENST00000637264.1:c.1914dup
ENST00000666746.1:c.2419dup
ENST00000670281.1:c.800+1057dup	ENSP00000499709.1:n.800+1057dup
ENST00000672071.1:n.3040dup
ENST00000672695.1:n.19dup
ENST00000672923.2:n.2784dup
ENST00000268124.9:c.2842dup	ENSP00000268124.5:p.Ile948AsnfsTer16
ENST00000442287.6:c.2842dup	ENSP00000399851.2:p.Ile948AsnfsTer16
ENST00000528881.2:c.439dup
ENST00000530715.5:c.186-36dup	ENSP00000431395.1:n.186-36dup
ENST00000631044.2:c.*2266dup	ENSP00000486730.1:n.*2266dup
NM_001126131.1:c.2842dup	NP_001119603.1:p.Ile948AsnfsTer16
NM_002693.2:c.2842dup	NP_002684.1:p.Ile948AsnfsTer16
NM_001126131.2:c.2842dup	NP_001119603.1:p.Ile948AsnfsTer16
NM_002693.3:c.2842dup MANE Select	NP_002684.1:p.Ile948AsnfsTer16